{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2827613100",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "I",
          "end": 314,
          "referenceAllele": "N",
          "start": 313
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003622",
      "geneNCBI_id": 2218,
      "geneSymbol": "FKTN",
      "hgvs": [
        "NP_001338428.1:p.Asn314Ile"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA5170613",
          "hgvs": "NM_001351499.2:c.941A>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS625737"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=425809[alleleid]",
        "alleleId": 425809,
        "preferredName": "NM_001079802.2(FKTN):c.1337A>T (p.Asn446Ile)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/432249",
        "RCV": [
          "RCV001082102",
          "RCV001167905",
          "RCV002383954",
          "RCV000498728",
          "RCV001167906"
        ],
        "variationId": 432249
      }
    ]
  },
  "type": "amino-acid"
}